List of variants in gene DYRK1A reported as pathogenic for Complex neurodevelopmental disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 21q22.13(chr21:38744158-38830251)x1
NCBI36/hg18 21q22.13-22.2(chr21:37662974-39195976)x1
NCBI36/hg18 21q22.13-22.2(chr21:37662974-39236719)x1
NM_001347721.2(DYRK1A):c.1008G>A (p.Trp336Ter)	rs1555985642
NM_001347721.2(DYRK1A):c.1221del (p.Lys407fs)	rs1064794006
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter)	rs724159953
NM_001347721.2(DYRK1A):c.1373dup (p.Ile459fs)	rs1555990946
NM_001347721.2(DYRK1A):c.1626C>A (p.Cys542Ter)	rs376106351
NM_001347721.2(DYRK1A):c.220dup (p.Gln74fs)	rs1555979106
NM_001347721.2(DYRK1A):c.301-2A>G	rs2052604858
NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter)	rs1057518204
NM_001347721.2(DYRK1A):c.424_439del (p.Asn142fs)	rs2052610181
NM_001347721.2(DYRK1A):c.434del (p.Lys145fs)	rs797044521
NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs)	rs1064796367
NM_001347721.2(DYRK1A):c.630C>A (p.Tyr210Ter)	rs746177928
NM_001347721.2(DYRK1A):c.658_659del (p.Met220fs)	rs1555984102
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter)	rs780441716
NM_001347721.2(DYRK1A):c.678_680delinsAC (p.Cys226_Leu227delinsTer)	rs1131691946

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.